Aneuploidy detection in single cells using DNA array-based comparative genomic hybridization

Molecular Human Reproduction

Volumn 10, Issue 4, 2004, Pages 283-289

  Hu, Dong Gui ^a   Webb, Graham ^a   Hussey, Nicole ^a  

^a UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

Aneuploidy screening; Array CGH; Microarray; Preimplantation genetic diagnosis; Single cell PCR

Indexed keywords

ACCURACY; ANALYTIC METHOD; ANEUPLOIDY; ARTICLE; AUTOSOME; CELL LINE; CHROMOSOME ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DNA LIBRARY; DNA MICROARRAY; FEMALE; FIBROBLAST; GENDER; GENE DELETION; HUMAN; HUMAN CELL; INTERMETHOD COMPARISON; LYMPHOCYTE; MALE; METAPHASE; NUCLEOTIDE REPEAT; PRIORITY JOURNAL; REFERENCE VALUE; TIME; TRISOMY 13; TRISOMY 18; X CHROMOSOME; Y CHROMOSOME;

FEMALE; HUMANS; LYMPHOCYTES; MALE; MOLECULAR PROBES; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; TRISOMY;

EID: 1842532539     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/gah038     Document Type: Article

References (28)

1. Albertson DG, Ylstra B, Segraves R, Collins C, Dairkee SH, Kowbel D, Kuo WL, Gray JW and Pinkel D (2000) Quantitative mapping of amplicon structure by array CGH identifies CYP24 as a candidate oncogene. Nat Genet 25,144-146.
2. Bentz M, Plesch A, Stilgenbauer S, Dohner H and Lichter P (1998) Minimal sizes of deletions detected by comparative genomic hybridization. Genes Chromosomes Cancer 21,172-175.
3. Bolzer A, Craig JM, Cremer T and Speicher MR (1999) A complete set of repeat-depleted, PCR-amplifiable, human chromosome-specific painting probes. Cytogenet Cell Genet 84,233-240.
4. Cai WW, Mao JH, Chow CW, Damani S, Balmain A and Bradley A (2002) Genome-wide detection of chromosomal imbalances in tumors using BAC microarrays. Nat Biotechnol 20,393-396.
5. Craig JM, Kraus J and Cremer T (1997) Removal of repetitive sequences from FISH probes using PCR-assisted affinity chromatography. Hum Genet 100,472-476.
6. Cui XF, Li HH, Goradia TM, Lange K, Kazazian HH Jr, Galas D and Arnheim N (1989) Single-sperm typing: Determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers. Proc Natl Acad Sci USA 86,9389-9393.
7. Daigo Y, Chin SF, Gorringe KL, Bobrow LG, Ponder BA, Pharoah PD and Caldas C (2001) Degenerate oligonucleotide primed-polymerase chain reaction-based array comparative genomic hybridization for extensive amplicon profiling of breast cancers: A new approach for the molecular analysis of paraffin-embedded cancer tissue. Am J Pathol 158,1623-1631.
8. Gianaroli L, Magli MC, Ferraretti AP and Munné S (1999) Preimplantation diagnosis for aneuploidies in patients undergoing in vitro fertilization with a poor prognosis: Identification of the categories for which it should be proposed. Fertil Steril 72,837-844.
9. Griffin DK, Wilton LJ, Handyside AH, Atkinson GH, Winston RM and Delhanty JD (1993) Diagnosis of sex in preimplantation embryos by fluorescent in situ hybridisation. Br Med J 306,1382.
10. Guan XY, Meltzer PS and Trent JM (1994) Rapid generation of whole chromosome painting probes (WCPs) by chromosome microdissection. Genomics 22,101-107.
11. Hussey ND, Donggui H, Froiland DA, Hussey DJ, Haan EA, Matthews CD and Craig JE (1999) Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cells. Mol Hum Reprod 5,1089-1094.
12. Kallioniemi OP, Kallioniemi A, Piper J, Isola J, Waldman FM, Gray JW and Pinkel D (1994) Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors. Genes Chromosomes Cancer 10,231-243.
13. Munné S et al. (1999) Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. Hum Reprod 14,2191-2199.
14. Munné S, Cohen J and Sable D (2002) Preimplantation genetic diagnosis for advanced maternal age and other indications. Fertil Steril 78,234-236.
15. Pinkel D et al. (1998) High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 20,207-211.
16. Pollack JR, Perou CM, Alizadeh AA, Eisen MB, Pergamenschikov A, Williams CF, Jeffrey SS, Botstein D and Brown PO (1999) Genome-wide analysis of DNA copy-number changes using cDNA microarrays. Nat Genet 23,41-46.
17. Pollack JR, Sorlie T, Perou CM, Rees CA, Jeffrey SS, LonningPE, Tibshirani R, Botstein D, Borresen-Dale AL and Brown PO (2002) Microarray analysis reveals a major direct role of DNA copy number alteration in the transcriptional program of human breast tumors. Proc Natl Acad Sci USA 99,12963-12968.
18. Ruangvutilert P, Delhanty JD, Rodeck CH and Harper JC (2000) Relative efficiency of FISH on metaphase and interphase nuclei from non-mosaic trisomic or triploid fibroblast cultures. Prenat Diagn 20,159-162.
19. Snijders AM et al. (2001) Assembly of microarrays for genome-wide measurement of DNA copy number. Nat Genet 29,263-264.
20. Telenius H, Carter NP, Bebb CE, Nordenskjold M, Ponder BA and Tunnacliffe A (1992) Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer. Genomics 13,718-725.
21. Veltman JA, Schoenmakers EF, Eussen BH, Janssen I, Merkx G, van Cleef B, van Ravenswaaij CM, Brunner HG, Smeets D and van Kessel AG (2002) High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. Am J Hum Genet 70,1269-1276.
22. Verlinsky Y et al. (1999) Prevention of age-related aneuploidies by polar body testing of oocytes. J Assist Reprod Genet 16,165-169.
23. Voullaire L, Wilton L, Slater H and Williamson R (1999) Detection of aneuploidy in single cells using comparative genomic hybridization. Prenat Diagn 19,846-851.
24. Voullaire L, Slater H, Williamson R and Wilton L (2000) Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization. Hum Genet 106,210-217.
25. Wells D and Delhanty JD (2000) Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization. Mol Hum Reprod 6,1055-1062.
26. Wells D, Sherlock JK, Handyside AH and Delhanty JD (1999) Detailed chromosomal and molecular genetic analysis of single cells by whole genome amplification and comparative genomic hybridisation. Nucleic Acids Res 27,1214-1218.
27. Wells D, Escudero T, Levy B, Hirschhorn K, Delhanty JD and Munné S (2002) First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy. Fertil Steril 78,543-549.
28. Wilton L, Williamson R, McBain J, Edgar D and Voullaire L (2001) Birth of a healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization. N Engl J Med 345,1537-1541.